ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3069713096
Gene: BCHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000046.1:p.Thr328Ile
CA355111657
NM_000055.4:c.983C>T